Mutagenetix > Incidental Mutation

Incidental Mutation 'R4857:Mpo'

374079

Institutional Source

Beutler Lab

Gene Symbol

Mpo

Ensembl Gene

ENSMUSG00000009350

Gene Name

myeloperoxidase

Synonyms

MMRRC Submission

042468-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4857 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

87684610-87695238 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 87687107 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 218 (K218E)

Ref Sequence

ENSEMBL: ENSMUSP00000112837 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020779] [ENSMUST00000107930] [ENSMUST00000121303] [ENSMUST00000143021]

AlphaFold

P11247

Predicted Effect

probably benign
Transcript: ENSMUST00000020779
AA Change: K218E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000020779
Gene: ENSMUSG00000009350
AA Change: K218E

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
Pfam:An_peroxidase	147	692	4.2e-183	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000107930

SMART Domains

Protein: ENSMUSP00000103563
Gene: ENSMUSG00000009350

Domain	Start	End	E-Value	Type
SCOP:g1cxp.1	82	99	1e-5	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000121303
AA Change: K218E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000112837
Gene: ENSMUSG00000009350
AA Change: K218E

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
Pfam:An_peroxidase	147	692	4.2e-183	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130442

Predicted Effect

probably benign
Transcript: ENSMUST00000143021

SMART Domains

Protein: ENSMUSP00000123371
Gene: ENSMUSG00000009350

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
PDB:4C1M\|B	139	167	4e-11	PDB
SCOP:g1cxp.1	141	167	4e-10	SMART

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.3%
20x: 92.3%

Validation Efficiency

97% (115/119)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Myeloperoxidase (MPO) is a heme protein synthesized during myeloid differentiation that constitutes the major component of neutrophil azurophilic granules. Produced as a single chain precursor, myeloperoxidase is subsequently cleaved into a light and heavy chain. The mature myeloperoxidase is a tetramer composed of 2 light chains and 2 heavy chains. This enzyme produces hypohalous acids central to the microbicidal activity of neutrophils. [provided by RefSeq, Nov 2014]
PHENOTYPE: Homozygous inactivation of this gene causes neutrophil dysfunction and decreased resistance to fungal infection with Candida, and may lead to enhanced atherosclerosis, reduced neutrophil-mediated lysis of muscle cells, decreased resistance to EAE, and altered asbestos-induced lung inflammation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 101 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930548G14Rik	C	T	15: 46,488,927 (GRCm39)		noncoding transcript	Het
Aasdh	A	T	5: 77,035,131 (GRCm39)	F428L	probably benign	Het
Abca13	A	G	11: 9,244,143 (GRCm39)	N2002S	probably benign	Het
Acot7	T	G	4: 152,322,211 (GRCm39)	F248V	possibly damaging	Het
Acsf2	A	G	11: 94,460,164 (GRCm39)	I396T	probably benign	Het
Agbl1	A	G	7: 76,069,583 (GRCm39)	N372D	probably benign	Het
Ahctf1	A	T	1: 179,626,922 (GRCm39)		probably benign	Het
Akap11	T	C	14: 78,736,300 (GRCm39)	D1830G		Het
Bcl7b	A	G	5: 135,202,033 (GRCm39)	*59W	probably null	Het
Bdh1	A	G	16: 31,266,366 (GRCm39)		probably null	Het
Bin3	A	G	14: 70,366,344 (GRCm39)	N69S	probably benign	Het
Bltp3b	A	T	10: 89,615,825 (GRCm39)	N156I	probably damaging	Het
Bsdc1	T	C	4: 129,365,685 (GRCm39)		probably benign	Het
Cacna1i	T	C	15: 80,253,863 (GRCm39)	V700A	probably damaging	Het
Calcr	T	C	6: 3,708,511 (GRCm39)	N225S	probably benign	Het
Cby2	C	T	14: 75,830,478 (GRCm39)	E8K	probably damaging	Het
Cdh23	A	G	10: 60,227,563 (GRCm39)	S1173P	probably damaging	Het
Cftr	C	T	6: 18,320,974 (GRCm39)	T1428M	possibly damaging	Het
Chd1l	T	C	3: 97,479,975 (GRCm39)	K591E	probably benign	Het
Chrd	C	T	16: 20,557,508 (GRCm39)	P709L	possibly damaging	Het
Ckap4	T	C	10: 84,369,352 (GRCm39)	R127G	possibly damaging	Het
Cnbd2	T	C	2: 156,209,485 (GRCm39)	F476S	probably benign	Het
Dclk3	T	C	9: 111,297,716 (GRCm39)	V420A	probably benign	Het
Dnah5	A	G	15: 28,345,953 (GRCm39)	D2431G	probably benign	Het
Duox1	T	A	2: 122,146,212 (GRCm39)	I10N	probably benign	Het
Ece2	T	A	16: 20,436,556 (GRCm39)	V126D	probably damaging	Het
Elfn1	T	C	5: 139,958,840 (GRCm39)	Y615H	probably damaging	Het
Epha1	T	C	6: 42,338,416 (GRCm39)	D720G	probably benign	Het
Fras1	A	G	5: 96,926,018 (GRCm39)	I3741V	probably benign	Het
Gm53	A	T	11: 96,142,562 (GRCm39)		noncoding transcript	Het
Grb10	G	T	11: 11,901,469 (GRCm39)		probably benign	Het
Grid2ip	A	G	5: 143,368,384 (GRCm39)	H568R	probably damaging	Het
Gsap	A	T	5: 21,492,797 (GRCm39)		probably null	Het
Gse1	T	C	8: 121,299,496 (GRCm39)		probably benign	Het
Gstm1	T	C	3: 107,923,724 (GRCm39)	R94G	possibly damaging	Het
Gtf2ird1	A	G	5: 134,391,398 (GRCm39)	F866L	probably damaging	Het
Haao	T	A	17: 84,146,009 (GRCm39)		probably null	Het
Hcn4	A	T	9: 58,766,853 (GRCm39)	I805F	unknown	Het
Hemk1	A	T	9: 107,206,647 (GRCm39)		probably benign	Het
Il12rb1	A	T	8: 71,263,232 (GRCm39)	Y33F	possibly damaging	Het
Il19	T	A	1: 130,863,683 (GRCm39)	I103F	probably damaging	Het
Itpr1	A	G	6: 108,387,828 (GRCm39)	N1522S	probably benign	Het
Klhdc8a	A	G	1: 132,230,843 (GRCm39)	Y236C	probably damaging	Het
Klhl3	C	T	13: 58,166,620 (GRCm39)	G404S	probably damaging	Het
Large2	T	C	2: 92,196,979 (GRCm39)		probably benign	Het
Lgi1	C	A	19: 38,294,698 (GRCm39)	A490E	probably damaging	Het
Lmbr1	A	G	5: 29,528,807 (GRCm39)	L112P	probably damaging	Het
Lmo7	T	A	14: 102,124,784 (GRCm39)		probably null	Het
Lpin1	A	C	12: 16,613,631 (GRCm39)	I479S	possibly damaging	Het
Lrrc40	T	A	3: 157,771,866 (GRCm39)		probably benign	Het
Lrrc9	A	G	12: 72,546,466 (GRCm39)	N1218S	possibly damaging	Het
Map3k9	A	G	12: 81,771,401 (GRCm39)	V729A	probably benign	Het
Marf1	A	T	16: 13,946,475 (GRCm39)	Y1215*	probably null	Het
Moap1	T	A	12: 102,708,824 (GRCm39)	I242L	probably benign	Het
Mpz	C	T	1: 170,986,379 (GRCm39)	R98C	probably damaging	Het
Neb	T	G	2: 52,091,992 (GRCm39)	K5024T	probably damaging	Het
Nlrp4b	C	T	7: 10,449,225 (GRCm39)	T109I	probably benign	Het
Noc3l	T	A	19: 38,781,244 (GRCm39)		probably null	Het
Nosip	G	A	7: 44,726,102 (GRCm39)	V220I	probably benign	Het
Nyap1	A	C	5: 137,733,840 (GRCm39)	S398A	probably damaging	Het
Or12d17	A	G	17: 37,777,714 (GRCm39)	M206V	possibly damaging	Het
Or4a68	T	G	2: 89,269,967 (GRCm39)	I219L	probably damaging	Het
Or4f54	A	G	2: 111,123,488 (GRCm39)	N292D	possibly damaging	Het
Osbpl7	T	C	11: 96,947,495 (GRCm39)		probably benign	Het
Pard3	A	T	8: 128,050,535 (GRCm39)	Y199F	probably damaging	Het
Pcdha11	G	A	18: 37,144,505 (GRCm39)	V199I	probably benign	Het
Pcdhga8	A	T	18: 37,859,967 (GRCm39)	N341I	probably damaging	Het
Pcsk4	A	G	10: 80,160,873 (GRCm39)	S318P	probably damaging	Het
Phldb1	C	A	9: 44,607,389 (GRCm39)	R1272L	probably damaging	Het
Phlpp2	A	G	8: 110,603,642 (GRCm39)	T103A	probably damaging	Het
Pibf1	T	A	14: 99,423,937 (GRCm39)	Y503*	probably null	Het
Pkn1	A	T	8: 84,410,856 (GRCm39)		probably null	Het
Pramel22	A	T	4: 143,383,158 (GRCm39)	N20K	possibly damaging	Het
Ptprf	A	G	4: 118,074,394 (GRCm39)		probably benign	Het
Rbm19	C	A	5: 120,270,898 (GRCm39)		probably benign	Het
Rcan1	T	C	16: 92,262,794 (GRCm39)	D5G	possibly damaging	Het
Recql5	A	T	11: 115,819,038 (GRCm39)	L176Q	probably damaging	Het
Rev3l	T	A	10: 39,714,455 (GRCm39)	L2393Q	probably damaging	Het
Rp1	C	A	1: 4,422,539 (GRCm39)	K180N	probably damaging	Het
Rp1	T	A	1: 4,422,540 (GRCm39)	K180M	probably damaging	Het
Sdk1	T	C	5: 142,147,531 (GRCm39)	V1461A	probably benign	Het
Sdk2	A	T	11: 113,712,208 (GRCm39)	L1653*	probably null	Het
Shroom3	G	T	5: 93,090,945 (GRCm39)	V1151F	probably damaging	Het
Skint10	A	T	4: 112,603,830 (GRCm39)	V119D	possibly damaging	Het
Sncaip	T	C	18: 53,002,297 (GRCm39)	S273P	probably benign	Het
Sp1	T	G	15: 102,339,409 (GRCm39)	I449S	probably damaging	Het
Spata31h1	T	C	10: 82,119,682 (GRCm39)	T4443A	possibly damaging	Het
Spats2	T	C	15: 99,072,301 (GRCm39)	L78P	probably damaging	Het
Stambp	T	A	6: 83,533,348 (GRCm39)	N305I	probably benign	Het
Stim2	A	T	5: 54,275,888 (GRCm39)	S688C	probably damaging	Het
Sytl3	A	G	17: 7,003,980 (GRCm39)	N355S	probably damaging	Het
Taf4b	C	T	18: 14,937,635 (GRCm39)	A236V	probably null	Het
Tnfaip6	A	G	2: 51,941,086 (GRCm39)		probably null	Het
Trpc2	T	A	7: 101,733,176 (GRCm39)	S416T	probably benign	Het
Ttn	T	C	2: 76,569,210 (GRCm39)	T27228A	probably damaging	Het
Ush2a	T	A	1: 188,269,917 (GRCm39)	D1721E	probably benign	Het
Usp47	T	A	7: 111,681,759 (GRCm39)	H523Q	probably damaging	Het
Vmn1r8	A	T	6: 57,013,338 (GRCm39)	I130F	probably benign	Het
Vps13b	A	G	15: 35,456,800 (GRCm39)	S749G	probably benign	Het
Xrcc5	C	A	1: 72,365,424 (GRCm39)	T283K	possibly damaging	Het
Ydjc	A	G	16: 16,966,002 (GRCm39)		probably benign	Het

Other mutations in Mpo

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00340:Mpo	APN	11	87,693,443 (GRCm39)	missense	probably benign
IGL00668:Mpo	APN	11	87,688,160 (GRCm39)	missense	probably benign	0.01
IGL01016:Mpo	APN	11	87,688,436 (GRCm39)	splice site	probably null
IGL01517:Mpo	APN	11	87,686,647 (GRCm39)	missense	possibly damaging	0.83
IGL01530:Mpo	APN	11	87,692,017 (GRCm39)	missense	probably benign	0.00
IGL02123:Mpo	APN	11	87,685,621 (GRCm39)	missense	probably benign	0.05
BB001:Mpo	UTSW	11	87,685,666 (GRCm39)	missense	probably damaging	1.00
BB011:Mpo	UTSW	11	87,685,666 (GRCm39)	missense	probably damaging	1.00
R0091:Mpo	UTSW	11	87,692,436 (GRCm39)	missense	probably benign	0.06
R0458:Mpo	UTSW	11	87,687,123 (GRCm39)	missense	probably benign	0.35
R0506:Mpo	UTSW	11	87,694,330 (GRCm39)	missense	probably benign	0.00
R0574:Mpo	UTSW	11	87,686,902 (GRCm39)	missense	probably damaging	0.99
R0850:Mpo	UTSW	11	87,688,328 (GRCm39)	missense	probably damaging	1.00
R1488:Mpo	UTSW	11	87,688,256 (GRCm39)	missense	probably damaging	1.00
R1753:Mpo	UTSW	11	87,686,707 (GRCm39)	missense	probably benign	0.06
R1785:Mpo	UTSW	11	87,688,187 (GRCm39)	missense	possibly damaging	0.90
R1891:Mpo	UTSW	11	87,692,106 (GRCm39)	nonsense	probably null
R1989:Mpo	UTSW	11	87,694,298 (GRCm39)	missense	probably damaging	1.00
R2107:Mpo	UTSW	11	87,686,901 (GRCm39)	missense	probably damaging	1.00
R2108:Mpo	UTSW	11	87,686,901 (GRCm39)	missense	probably damaging	1.00
R2130:Mpo	UTSW	11	87,688,187 (GRCm39)	missense	possibly damaging	0.90
R2132:Mpo	UTSW	11	87,688,187 (GRCm39)	missense	possibly damaging	0.90
R3930:Mpo	UTSW	11	87,691,866 (GRCm39)	missense	probably damaging	1.00
R3931:Mpo	UTSW	11	87,691,866 (GRCm39)	missense	probably damaging	1.00
R3941:Mpo	UTSW	11	87,688,175 (GRCm39)	missense	probably benign	0.02
R4323:Mpo	UTSW	11	87,686,865 (GRCm39)	missense	probably damaging	1.00
R4892:Mpo	UTSW	11	87,693,507 (GRCm39)	missense	probably benign	0.00
R5224:Mpo	UTSW	11	87,687,283 (GRCm39)	unclassified	probably benign
R5250:Mpo	UTSW	11	87,694,259 (GRCm39)	missense	probably benign	0.03
R5373:Mpo	UTSW	11	87,694,437 (GRCm39)	critical splice donor site	probably null
R5374:Mpo	UTSW	11	87,694,437 (GRCm39)	critical splice donor site	probably null
R5408:Mpo	UTSW	11	87,691,851 (GRCm39)	splice site	probably null
R5708:Mpo	UTSW	11	87,692,581 (GRCm39)	splice site	probably null
R6354:Mpo	UTSW	11	87,688,172 (GRCm39)	missense	possibly damaging	0.89
R6598:Mpo	UTSW	11	87,690,798 (GRCm39)	missense	probably benign	0.43
R6713:Mpo	UTSW	11	87,686,194 (GRCm39)	missense	probably damaging	1.00
R7053:Mpo	UTSW	11	87,694,336 (GRCm39)	missense	probably damaging	0.99
R7395:Mpo	UTSW	11	87,691,950 (GRCm39)	missense	probably damaging	1.00
R7573:Mpo	UTSW	11	87,688,403 (GRCm39)	missense	probably benign	0.01
R7924:Mpo	UTSW	11	87,685,666 (GRCm39)	missense	probably damaging	1.00
R8152:Mpo	UTSW	11	87,692,475 (GRCm39)	missense	probably benign
R8285:Mpo	UTSW	11	87,688,393 (GRCm39)	missense	probably benign	0.05
R8776:Mpo	UTSW	11	87,693,538 (GRCm39)	missense	possibly damaging	0.50
R8776-TAIL:Mpo	UTSW	11	87,693,538 (GRCm39)	missense	possibly damaging	0.50
R8807:Mpo	UTSW	11	87,687,165 (GRCm39)	missense	probably benign	0.05
R8829:Mpo	UTSW	11	87,694,250 (GRCm39)	missense	probably damaging	1.00
R9037:Mpo	UTSW	11	87,688,557 (GRCm39)	unclassified	probably benign
R9272:Mpo	UTSW	11	87,686,693 (GRCm39)	missense	probably benign	0.01
R9535:Mpo	UTSW	11	87,690,794 (GRCm39)	missense	probably damaging	1.00
R9746:Mpo	UTSW	11	87,694,349 (GRCm39)	missense	probably benign
RF018:Mpo	UTSW	11	87,688,465 (GRCm39)	missense	probably damaging	1.00
Z1088:Mpo	UTSW	11	87,686,071 (GRCm39)	missense	probably benign	0.06

Predicted Primers

PCR Primer
(F):5'- CAGAGTATGAAGATGGCGTCTCC -3'
(R):5'- GACACAGACCCTGATGGATG -3'

Sequencing Primer
(F):5'- GCGTCTCCATGCCCTTTGG -3'
(R):5'- CACAGACCCTGATGGATGGAAGG -3'

Posted On

2016-03-01